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المؤلفون: Julia Perry, Shelby Redfield, Andrea Oza, Stephanie Rouse, Candace Stewart, Harmon Khela, Tarika Srinivasan, Victoria Albano, Eliot Shearer, Margaret Kenna
المصدر: The LaryngoscopeBIBLIOGRAPHY.
مصطلحات موضوعية: Otorhinolaryngology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::644ad08dd690643b9da9bb1cbe22eea2Test
https://pubmed.ncbi.nlm.nih.gov/36515421Test -
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المؤلفون: Sheng-Jia Lin, Barbara Vona, Patricia G. Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Cassidy Petree, Mariasavina Severino, Valentina Stanley, Pratishtha Varshney, Paulina Bahena, Fatema Alzahrani, Amal Alhashem, Alistair T. Pagnamenta, Gudrun Aubertin, Juvianee I. Estrada-Veras, Héctor Adrián Díaz Hernández, Neda Mazaheri, Andrea Oza, Jenny Thies, Deborah L. Renaud, Sanmati Dugad, Jennifer McEvoy, Tipu Sultan, Lynn S. Pais, Brahim Tabarki, Daniel Villalobos-Ramirez, Aboulfazl Rad, J.C. Ambrose, P. Arumugam, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, T. Fowler, A. Giess, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, E.R.A. Thomas, S.R. Thompson, A. Tucci, E. Walsh, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, Hamid Galehdari, Farah Ashrafzadeh, Afsaneh Sahebzamani, Kolsoum Saeidi, Erin Torti, Houda Z. Elloumi, Sara Mora, Timothy B. Palculict, Hui Yang, Jonathan D. Wren, null Ben Fowler, Manali Joshi, Martine Behra, Shawn M. Burgess, Swapan K. Nath, Michael G. Hanna, Margaret Kenna, J. Lawrence Merritt, Henry Houlden, Ehsan Ghayoor Karimiani, Maha S. Zaki, Thomas Haaf, Fowzan S. Alkuraya, Joseph G. Gleeson, Gaurav K. Varshney
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(10)
مصطلحات موضوعية: Genetics, Lysine-tRNA Ligase, biology, Disease, biology.organism_classification, medicine.disease, Phenotype, Human genetics, Disease Models, Animal, Neurodevelopmental Disorders, medicine, Missense mutation, Autism, Animals, Humans, Allele, Hearing Loss, Zebrafish, Genetics (clinical), Gene knockout, Alleles
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f3ae350cc512f0b956a6e8d9210c51Test
https://pubmed.ncbi.nlm.nih.gov/34172899Test -
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المؤلفون: Lucia, Ambrosio, Ronald M, Hansen, Anne, Moskowitz, Andrea, Oza, Devon, Barrett, Juliana, Manganella, Genevieve, Medina, Kosuke, Kawai, Anne B, Fulton, Margaret, Kenna
المصدر: Documenta ophthalmologica. Advances in ophthalmology. 143(1)
مصطلحات موضوعية: Electroretinography, Visual Acuity, Humans, Visual Field Tests, Child, Usher Syndromes, Retina
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::43c32bc3992bc8a176a7b6a95a907c4aTest
https://pubmed.ncbi.nlm.nih.gov/33511521Test